Approved symbol | NPL |
---|---|
Approved name | N-acetylneuraminate pyruvate lyase |
HGCN ID | HGNC:16781 |
Previous symbols | C1orf13 |
Inheritance | |
OMIM | 611412 |
Chromosome | 1q25.3 |
Panel(s) |
NGS Mendeliome NGS Treatable metabolic neurodegenerative disorders |